Official websites use .gov
A
.gov website belongs to an official
government organization in the United States.
Secure .gov websites use HTTPS
A lock (
) or https:// means you've safely
connected to the .gov website. Share sensitive
information only on official, secure websites.
Genetic segregation analysis and in silico mutation prediction analyses of SNP variants identified by exome sequencing. Only the homozygous THPO variant (c.CGT>TGT;p.Arg17C) segregated with the aplastic anemia phenotype in the proband (II.1) and her asymptomatic affected brother (II.2) as shown in A and B. Amino acid substitution is highlighted in green under the affected codon.
